View the Detailed Mosaic Information from PubMed ID: 28867142
| Gene ID | Gene Symbol | Chr | Position |
|---|---|---|---|
| 6326 | SCN2A | 2 | 166211152 |
| Ref | Alt | Genotype | Validated Method |
| A | T | Parental Mosaic Transmitted | |
| SSC ID | WES Depth | WES Alt Count | PASM Depth |
| 13522.mo | 51 | ||
| PASM Maf | PASM MAF 95%CI lowerbound | PASM MAF 95%CI upperbound | Location |
| exonic | |||
| iFish Probablity | iFish Prediction | SIFT | Phylop |
| 0.889 | deleterious | 9.339 | |
| Polyphen2_HDIV | Polyphen2_HVAR | MutationAssessor | GERP_RS |
| 0.997 | 0.964 | 3.275 | 5.56 |
| dScore | CpG | Hydropathicity | Polarity |
| 2.946 | 3.3 | -3.7 |
Notes:
*iFish(Wang M, Wei L, PIMD: 27527004) is a supporting vector machine (SVM) based classifier which uses gene and gene family specific attributes. At the same time, iFish alsoprovides functional annotations from other classifiers such as: SIFT, Polyphen2, and MutationTaster2.
iFish utilized customized prediction cutoff for each classifier that maximizes the sum of sensitivity andspecificity.